Canonical Allele Identifier: CA4612905
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877892del , CM000670.2:g.6877892del GRCh38
NC_000008.10:g.6735414del , CM000670.1:g.6735414del GRCh37
NC_000008.9:g.6722824del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-35del MANE Select ENSP00000297439.3:n.-35del
ENST00000297439.3:c.-35del ENSP00000297439.3:n.-35del
NM_005218.3:c.-35del NP_005209.1:n.-35del
NM_005218.4:c.-35del MANE Select NP_005209.1:n.-35del